Strides in STXBP1 Research: December 2025
What was new in December of 2025
The CHOP group involved in our STARR study looked at how well three common tools—used to rate movement, hand skills, and communication in children with cerebral palsy—work for people with STXBP1‑related disorders and SYNGAP1‑related disorders. They found that these tools can be used reliably by different clinicians and generally give stable results over time, especially for people with STXBP1‑RD. Across both disorders, language was the most affected area, while gross motor skills (like walking or moving around) were usually the least affected. This study is important because it demonstrates that these rating scales used in the STARR study would be useful for future therapeutic clinical trials for STXBP1-RD.
A Spanish team published a study that explored what everyday life is like for mothers caring for children with severe genetic epilepsies such as STXBP1, tuberous sclerosis complex, and SYNGAP1. Through in‑depth interviews, the researchers found that these mothers carry an enormous daily load of managing seizures, therapies, medical appointments, and constant vigilance, while also coping with exhaustion, fear about the future, and emotional strain. Their caregiving responsibilities often disrupt jobs, friendships, and personal goals, and can place stress on relationships and family planning. Overall, the study highlights how deeply these conditions reshape mothers’ lives and emphasizes the need for healthcare professionals to better support families facing these challenges.
An international team of scientists from Finland, Poland, and the US looked at why some mice with early retinitis pigmentosa, a disease that kills the eye’s rod cells (cells used to detect light) can still see surprisingly well in dim light even after losing many rods. The researchers found that the remaining rod cells seem to “boost” their communication with the next cells in the visual pathway by increasing certain proteins involved in sending signals—such as SNAP25, SYT1, and STXBP1. Using single‑cell RNA sequencing, proteomics, and imaging, they show that rod, and not other cells in the visual pathway, are the ones making these adjustments. This suggests the retina tries to compensate for cell loss by strengthening the surviving connections, a form of “homeostatic plasticity” that helps preserve night vision in early disease. This study importantly shows that increasing STXBP1 expression in cells can help restore function.
A study by researchers from Stanford used very large genetic datasets and a new statistical model to identify genes that contribute to epilepsy. One of the strongest signals they detected was STXBP1, a gene already known to cause early‑onset epilepsy and developmental disorders. By combining several types of genetic evidence - how intolerant a gene is to change, how damaging a mutation is predicted to be, and how often harmful variants appear in people with epilepsy - the model confirmed STXBP1 as a high‑confidence epilepsy gene. Previous methods used to identify epilepsy genes often gave less importance to STXBP1. The study reinforces STXBP1’s central role in epileptic disorders and shows that integrating multiple genetic signals can increase the ability to identify key disease‑related genes.
Researchers from India looked at the DNA of people with epilepsy, migraine, or both conditions to see whether they share common genetic causes. By sequencing the protein‑coding parts of the genome in 191 individuals, the researchers found harmful variants in several genes that help control how brain cells send electrical signals and communicate. Many of these genes affect ion channels—tiny gateways that regulate the flow of sodium, potassium, and other charged particles in and out of neurons. Some genes, like STXBP1, appeared in people with epilepsy, while others were linked to migraine or to individuals who had both conditions. Overall, the results suggest that migraine and epilepsy overlap more than previously understood, sharing disruptions in the same biological pathways, which could eventually guide more unified treatment approaches.
Chinese researchers looked at brain tumor samples to figure out which genes are most important in driving glioma, an aggressive type of brain cancer. By combining big datasets, machine‑learning tools, and single‑cell sequencing, the researchers identified six key genes - including STXBP1 - that are normally involved in how brain cells communicate but have decreased expression in glioma. The study also showed that low levels of these genes are linked to changes in the immune environment around the tumor and may influence how the cancer grows. Overall, the findings suggest these six genes could serve as useful biomarkers for diagnosing glioma and may point toward new treatment strategies.
